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. 2021 Jun 9;49(11):6315–6330. doi: 10.1093/nar/gkab475

Figure 4.

Figure 4.

CTCF binding across the IC2 deletion. ChIP-qPCR results of CTCF occupancy relative to the non-imprinted ANXA9 locus. For BWS LOM, N = 3; for unrelated non-BWS controls, N = 3. Error bars represent CI. (A) CTCF binding at Regions 1, 3, 4 and 5 relative to the control level of binding at the Region4 ICR. Regions 1, 3 and 5 have higher CTCF occupancy than that at Region4. Relative to controls, III-3 fibroblasts carrying the KCNQ1 5′ deletion demonstrate reduced CTCF binding Regions 1 and 3. (B) Sanger sequencing trace of the rs67439072 SNP designated by the black box in genomic DNA isolated from III-3 KCNQ1 5′ deletion fibroblasts located less than 100 bp from the Region1 CTCF site. (C) Sanger sequencing trace of the same boxed SNP in ChIP DNA isolated from III-3 KCNQ1 5′ deletion fibroblasts.